Canonical Allele Identifier: CA352156689

Gene: SCN10A

Linked Data

• ClinVar Variation Id: 573935
• ClinVar RCV Id: RCV000695738
• dbSNP Id: rs1559424975
• MyVariant Identifiers: chr3:g.38766723A>C (hg19) ; chr3:g.38725232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38725232A>C , CM000665.2:g.38725232A>C	GRCh38
NC_000003.11:g.38766723A>C , CM000665.1:g.38766723A>C	GRCh37
NC_000003.10:g.38741727A>C	NCBI36
NG_031891.2:g.73779T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000449082.3:c.3170T>G MANE Select	ENSP00000390600.2:p.Leu1057Arg
ENST00000643924.1:c.3167T>G	ENSP00000495595.1:p.Leu1056Arg
ENST00000655275.1:c.3194T>G	ENSP00000499510.1:p.Leu1065Arg
ENST00000449082.2:c.3170T>G	ENSP00000390600.2:p.Leu1057Arg
NM_001293306.2:c.3167T>G	NP_001280235.2:p.Leu1056Arg
NM_001293307.2:c.2876T>G	NP_001280236.2:p.Leu959Arg
NM_006514.3:c.3170T>G	NP_006505.3:p.Leu1057Arg
XM_005265371.2:c.3179T>G	XP_005265428.1:p.Leu1060Arg
XM_011533993.1:c.3176T>G	XP_011532295.1:p.Leu1059Arg
XM_011533994.1:c.2885T>G	XP_011532296.1:p.Leu962Arg
XM_005265371.3:c.3179T>G	XP_005265428.1:p.Leu1060Arg
XM_011533993.2:c.3176T>G	XP_011532295.1:p.Leu1059Arg
XM_011533994.2:c.2885T>G	XP_011532296.1:p.Leu962Arg
NM_006514.4:c.3170T>G MANE Select	NP_006505.4:p.Leu1057Arg